Linked Data
ClinVar Variation Id:
255673
dbSNP Id:
rs886038275
gnomAD v2:
9-98268900-G-A
gnomAD v4:
9-95506618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95506618G>A , CM000671.2:g.95506618G>A | GRCh38 |
| NC_000009.11:g.98268900G>A , CM000671.1:g.98268900G>A | GRCh37 |
| NC_000009.10:g.97308721G>A | NCBI36 |
| NG_007664.1:g.15348C>T , LRG_515:g.15348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.4-19C>T | ENSP00000518556.1:n.4-19C>T | |
| ENST00000437951.6:c.199-19C>T MANE Plus Clinical | ENSP00000389744.2:n.199-19C>T | |
| ENST00000331920.11:c.202-19C>T MANE Select | ENSP00000332353.6:n.202-19C>T | |
| ENST00000331920.10:c.202-19C>T | ENSP00000332353.6:n.202-19C>T | |
| ENST00000375274.6:c.199-19C>T | ENSP00000364423.2:n.199-19C>T | |
| ENST00000418258.5:c.-252-19C>T | ENSP00000396135.1:n.-252-19C>T | |
| ENST00000421141.5:c.-252-19C>T | ENSP00000399981.1:n.-252-19C>T | |
| ENST00000429896.6:c.-252-19C>T | ENSP00000414823.2:n.-252-19C>T | |
| ENST00000430669.6:c.4-19C>T | ENSP00000410287.2:n.4-19C>T | |
| ENST00000437951.5:c.4-19C>T | ENSP00000389744.1:n.4-19C>T | |
| ENST00000468211.6:c.4-19C>T | ENSP00000449745.1:n.4-19C>T | |
| ENST00000546820.5:c.-252-19C>T | ENSP00000448843.1:n.-252-19C>T | |
| ENST00000547672.5:c.-252-19C>T | ENSP00000447878.1:n.-252-19C>T | |
| ENST00000548420.1:c.-306C>T | ENSP00000449078.1:n.-306C>T | |
| ENST00000551425.1:n.190+9851C>T | ||
| ENST00000551623.1:c.36+10005C>T | ENSP00000447242.1:n.36+10005C>T | |
| ENST00000551845.5:c.-252-19C>T | ENSP00000447008.1:n.-252-19C>T | |
| ENST00000553011.5:c.-252-19C>T | ENSP00000447797.1:n.-252-19C>T | |
| NM_000264.3:c.202-19C>T , LRG_515t1:c.202-19C>T | NP_000255.2:n.202-19C>T | |
| NM_001083602.1:c.4-19C>T , LRG_515t2:c.4-19C>T | NP_001077071.1:n.4-19C>T | |
| NM_001083603.1:c.199-19C>T | NP_001077072.1:n.199-19C>T | |
| NM_001083604.1:c.-252-19C>T | NP_001077073.1:n.-252-19C>T | |
| NM_001083605.1:c.-252-19C>T | NP_001077074.1:n.-252-19C>T | |
| NM_001083606.1:c.-252-19C>T | NP_001077075.1:n.-252-19C>T | |
| NM_001083607.1:c.-252-19C>T | NP_001077076.1:n.-252-19C>T | |
| XM_011518868.1:c.202-19C>T | XP_011517170.1:n.202-19C>T | |
| XM_011518871.1:c.-60+9851C>T | XP_011517173.1:n.-60+9851C>T | |
| XM_011518874.1:c.202-19C>T | XP_011517176.1:n.202-19C>T | |
| NM_000264.4:c.202-19C>T | NP_000255.2:n.202-19C>T | |
| NM_001083602.2:c.4-19C>T | NP_001077071.1:n.4-19C>T | |
| NM_001083603.2:c.199-19C>T | NP_001077072.1:n.199-19C>T | |
| NM_001083604.2:c.-252-19C>T | NP_001077073.1:n.-252-19C>T | |
| NM_001083605.2:c.-252-19C>T | NP_001077074.1:n.-252-19C>T | |
| NM_001083606.2:c.-252-19C>T | NP_001077075.1:n.-252-19C>T | |
| NM_001083607.2:c.-252-19C>T | NP_001077076.1:n.-252-19C>T | |
| NM_001354918.1:c.202-19C>T | NP_001341847.1:n.202-19C>T | |
| NM_001354919.1:c.4-19C>T | NP_001341848.1:n.4-19C>T | |
| NR_149061.1:n.390-19C>T | ||
| NM_000264.5:c.202-19C>T MANE Select | NP_000255.2:n.202-19C>T | |
| NM_001083606.3:c.-252-19C>T | NP_001077075.1:n.-252-19C>T | |
| NM_001354918.2:c.202-19C>T | NP_001341847.1:n.202-19C>T | |
| NR_149061.2:n.1107-19C>T | ||
| NM_001083602.3:c.4-19C>T | NP_001077071.1:n.4-19C>T | |
| NM_001083603.3:c.199-19C>T MANE Plus Clinical | NP_001077072.1:n.199-19C>T | |
| NM_001083604.3:c.-252-19C>T | NP_001077073.1:n.-252-19C>T | |
| NM_001083605.3:c.-252-19C>T | NP_001077074.1:n.-252-19C>T | |
| NM_001083607.3:c.-252-19C>T | NP_001077076.1:n.-252-19C>T | |
| NM_001354919.2:c.4-19C>T | NP_001341848.1:n.4-19C>T |